Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

Authors: Peter M. Andersen, Ulrika Nordström, Konstantinos Tsiakas, Jessika Johannsen, Alexander E. Volk, Tatjana Bierhals, Per Zetterström, Stefan L. Marklund, Maja Hempel, René Santer - New England Journal of Medicine, NEJM 2019 cited by 61

Absence of SOD1 Activity and Motor Neuron Syndrome In a child with a homozygous truncating mutation in SOD1, SOD1 activity in red cells was absent and fibroblasts grew only with oxygen deprivation....